NEW GENES, FUNCTIONS AND BIOMARKERS

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Facioscapulohumeral muscular dystrophy (FSHD) is hallmarked by the sporadic expression of the germline and cleavage-stage transcription factor DUX4 in myonuclei of affected muscle. Despite the sporadic nature of DUX4 expression, its presence in muscle activates a cascade of muscle disrupting events eventually leading to muscle atrophy and apoptosis of affected cells. Yet, with an estimated ratio of 1:100 – 1:1000 nuclei expressing DUX4 in primary myotube cultures, transcriptome analyses have systematically been challenged by the majority of nuclei being negative for DUX4 expression, weakening the DUX4 transcriptome signatures.

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